Mutagenetix > Incidental Mutation

Incidental Mutation 'R5646:Myo3b'

441119

Institutional Source

Beutler Lab

Gene Symbol

Myo3b

Ensembl Gene

ENSMUSG00000042064

Gene Name

myosin IIIB

Synonyms

A430065P19Rik

MMRRC Submission

043294-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5646 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70039126-70429198 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70314430 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1110 (I1110T)

Ref Sequence

ENSEMBL: ENSMUSP00000055362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060208] [ENSMUST00000112243]

AlphaFold

Q1EG27

Predicted Effect

probably damaging
Transcript: ENSMUST00000060208
AA Change: I1110T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: I1110T

Domain	Start	End	E-Value	Type
S_TKc	43	309	2.24e-85	SMART
MYSc	353	1075	6.61e-260	SMART
IQ	1075	1097	9.51e1	SMART
IQ	1102	1124	1.73e-5	SMART
low complexity region	1319	1324	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112243
AA Change: I1082T

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: I1082T

Domain	Start	End	E-Value	Type
S_TKc	15	281	2.24e-85	SMART
MYSc	325	1047	6.61e-260	SMART
IQ	1047	1069	9.51e1	SMART
IQ	1074	1096	1.73e-5	SMART
low complexity region	1291	1296	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the class III myosins. Myosins are ATPases, activated by actin, that move along actin filaments in the cell. This class of myosins are characterized by an amino-terminal kinase domain and shown to be present in photoreceptors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	G	10: 82,283,776	S4467P	probably damaging	Het
Add1	C	A	5: 34,630,680	A691D	probably benign	Het
Agap3	C	A	5: 24,483,397	D394E	probably benign	Het
Arhgef11	T	C	3: 87,684,486	V59A	possibly damaging	Het
Atp2a1	A	G	7: 126,453,105	V402A	probably benign	Het
Bbs9	T	C	9: 22,578,715	F261L	probably benign	Het
Bsn	A	T	9: 108,110,432		probably benign	Het
Camk1	A	G	6: 113,339,340	V81A	probably damaging	Het
Cass4	T	G	2: 172,416,245	C54W	probably damaging	Het
Ccdc39	A	T	3: 33,825,550	F456L	probably damaging	Het
Cdc42bpa	A	G	1: 180,106,094	E766G	probably damaging	Het
Cdcp2	T	C	4: 107,105,142	C171R	probably damaging	Het
Cdh9	G	A	15: 16,823,285	E118K	probably damaging	Het
Col4a2	G	A	8: 11,441,281	G1227R	probably damaging	Het
Cyp2d9	A	G	15: 82,452,464	T5A	probably benign	Het
Dlg5	T	A	14: 24,158,699	D813V	probably damaging	Het
Dmtf1	G	A	5: 9,124,515	S405F	possibly damaging	Het
Drd2	A	G	9: 49,404,912	K324R	probably benign	Het
Ergic1	T	C	17: 26,614,358	S29P	probably damaging	Het
Fmnl1	A	G	11: 103,196,512		probably benign	Het
Foxd2	C	T	4: 114,908,635	A63T	unknown	Het
Gfap	T	C	11: 102,891,456	I409M	probably benign	Het
Gfpt1	A	G	6: 87,042,999	M1V	probably null	Het
H2-T23	C	G	17: 36,031,803	E148Q	possibly damaging	Het
Hip1	G	A	5: 135,428,741	R704W	probably damaging	Het
Kif19a	A	C	11: 114,779,654	D130A	probably damaging	Het
Lin7b	T	C	7: 45,369,193	D14G	probably damaging	Het
Meioc	T	A	11: 102,675,257	N510K	possibly damaging	Het
Mettl5	C	A	2: 69,881,319	G68*	probably null	Het
Mitf	A	T	6: 98,013,694	I184F	probably damaging	Het
Mmp9	T	A	2: 164,949,050	H119Q	probably benign	Het
Mycbp2	T	A	14: 103,169,910	H2768L	probably benign	Het
Myh2	A	T	11: 67,188,812	I1032F	probably benign	Het
Nde1	T	C	16: 14,169,514	F8L	probably damaging	Het
Olfr1317	T	C	2: 112,142,683	V246A	possibly damaging	Het
Olfr202	C	T	16: 59,283,979	V173I	probably benign	Het
Olfr432	C	T	1: 174,051,287	Q305*	probably null	Het
Olfr447	A	G	6: 42,911,523		probably null	Het
Olfr550	A	C	7: 102,579,305	Y270S	possibly damaging	Het
Olfr753-ps1	T	C	17: 37,169,917	I244V	probably benign	Het
Olfr771	T	C	10: 129,160,837	D49G	possibly damaging	Het
Pcdhga8	A	G	18: 37,726,770	H293R	probably benign	Het
Pde7a	A	T	3: 19,233,773	L244Q	probably damaging	Het
Pex14	T	C	4: 148,961,453	D340G	probably benign	Het
Pfkfb4	A	T	9: 109,008,421	I195F	probably damaging	Het
Pik3c2a	C	A	7: 116,405,951	G361W	probably damaging	Het
Prkcg	T	A	7: 3,329,081	M517K	probably damaging	Het
Prob1	A	T	18: 35,654,114	F362L	probably benign	Het
Rims4	C	T	2: 163,864,017	W232*	probably null	Het
Robo2	T	C	16: 73,961,819	D688G	probably damaging	Het
Sec24c	C	A	14: 20,679,573	A73E	probably benign	Het
Slc15a3	A	G	19: 10,843,210	N64D	probably benign	Het
Smg1	A	T	7: 118,212,559	N65K	probably benign	Het
Sptb	G	T	12: 76,587,441	D2165E	probably benign	Het
Sptbn5	A	T	2: 120,048,811		noncoding transcript	Het
Syt12	A	T	19: 4,456,541	M192K	possibly damaging	Het
Tas2r107	A	G	6: 131,659,708	V126A	probably benign	Het
Thbs3	T	C	3: 89,219,098	L242P	probably damaging	Het
Timp2	A	T	11: 118,317,532		probably null	Het
Tmtc1	G	A	6: 148,246,831	A751V	probably damaging	Het
Tnni2	A	T	7: 142,443,913	D85V	probably damaging	Het
Ttc39b	G	A	4: 83,244,070	P319L	probably damaging	Het
Ttc6	A	T	12: 57,576,019	K68M	probably damaging	Het
Usp25	G	A	16: 77,050,472	R156Q	probably benign	Het
Vill	A	T	9: 119,071,162	D365V	probably damaging	Het
Vmn1r65	T	A	7: 6,009,224	T4S	probably benign	Het
Vmn2r76	C	A	7: 86,226,053	C572F	probably damaging	Het
Vps26a	A	C	10: 62,468,298	N181K	probably damaging	Het
Xirp2	T	C	2: 67,510,790	L1125P	probably damaging	Het
Zbtb41	T	G	1: 139,423,763	S205A	probably benign	Het
Zfp438	T	C	18: 5,214,526	D144G	probably benign	Het
Zfp600	T	C	4: 146,195,100	S113P	probably damaging	Het
Zfp84	C	T	7: 29,776,393	T170M	probably benign	Het
Zmiz2	T	A	11: 6,402,837	D654E	probably damaging	Het
Zswim4	A	T	8: 84,231,110		probably null	Het

Other mutations in Myo3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00736:Myo3b	APN	2	70105645	splice site	probably benign
IGL00959:Myo3b	APN	2	70314292	missense	probably damaging	1.00
IGL01069:Myo3b	APN	2	70245391	missense	probably benign	0.22
IGL01116:Myo3b	APN	2	70289386	missense	probably damaging	1.00
IGL02097:Myo3b	APN	2	70238829	missense	probably damaging	1.00
IGL02220:Myo3b	APN	2	70289579	splice site	probably benign
IGL02553:Myo3b	APN	2	70095224	missense	probably benign	0.00
IGL02557:Myo3b	APN	2	70255319	missense	probably benign	0.16
IGL02648:Myo3b	APN	2	70105372	splice site	probably benign
IGL02902:Myo3b	APN	2	70289401	missense	probably benign	0.36
IGL02981:Myo3b	APN	2	70108625	missense	probably damaging	1.00
IGL03030:Myo3b	APN	2	70426816	splice site	probably benign
IGL03031:Myo3b	APN	2	70255377	missense	possibly damaging	0.64
IGL03068:Myo3b	APN	2	70426816	splice site	probably benign
IGL03078:Myo3b	APN	2	70286991	missense	probably damaging	1.00
IGL03224:Myo3b	APN	2	70349939	missense	probably benign
IGL03329:Myo3b	APN	2	70254459	missense	probably damaging	1.00
R0079:Myo3b	UTSW	2	70095158	missense	possibly damaging	0.58
R0226:Myo3b	UTSW	2	70217166	missense	probably benign	0.00
R0238:Myo3b	UTSW	2	70105425	missense	probably benign	0.00
R0238:Myo3b	UTSW	2	70105425	missense	probably benign	0.00
R0239:Myo3b	UTSW	2	70105425	missense	probably benign	0.00
R0239:Myo3b	UTSW	2	70105425	missense	probably benign	0.00
R0313:Myo3b	UTSW	2	70348959	nonsense	probably null
R0331:Myo3b	UTSW	2	70095261	missense	probably damaging	1.00
R0371:Myo3b	UTSW	2	70252960	splice site	probably benign
R0442:Myo3b	UTSW	2	70238961	critical splice donor site	probably null
R0964:Myo3b	UTSW	2	70426849	missense	probably damaging	1.00
R1217:Myo3b	UTSW	2	70330880	missense	probably benign	0.02
R1429:Myo3b	UTSW	2	70253007	missense	probably damaging	0.97
R1460:Myo3b	UTSW	2	70232454	missense	probably benign	0.31
R1617:Myo3b	UTSW	2	70281218	missense	probably benign	0.00
R1628:Myo3b	UTSW	2	70286962	missense	probably benign	0.01
R1708:Myo3b	UTSW	2	70245385	nonsense	probably null
R1940:Myo3b	UTSW	2	70258075	missense	probably benign	0.01
R2407:Myo3b	UTSW	2	70255253	missense	probably damaging	1.00
R3081:Myo3b	UTSW	2	70256583	splice site	probably benign
R3687:Myo3b	UTSW	2	70245314	missense	probably benign
R3745:Myo3b	UTSW	2	70234485	splice site	probably benign
R4011:Myo3b	UTSW	2	70096376	missense	probably benign	0.15
R4074:Myo3b	UTSW	2	70289464	missense	probably damaging	1.00
R4419:Myo3b	UTSW	2	70096362	missense	probably damaging	1.00
R4496:Myo3b	UTSW	2	70254404	missense	probably benign
R4539:Myo3b	UTSW	2	70039147	start codon destroyed	probably null	0.00
R4643:Myo3b	UTSW	2	70238842	missense	possibly damaging	0.49
R4657:Myo3b	UTSW	2	70238899	missense	possibly damaging	0.95
R4807:Myo3b	UTSW	2	70105712	missense	probably damaging	1.00
R4849:Myo3b	UTSW	2	70244909	missense	probably damaging	0.98
R4997:Myo3b	UTSW	2	70258083	missense	possibly damaging	0.49
R5008:Myo3b	UTSW	2	70258068	missense	probably damaging	0.99
R5070:Myo3b	UTSW	2	70253112	missense	probably damaging	1.00
R5072:Myo3b	UTSW	2	70095249	missense	possibly damaging	0.96
R5082:Myo3b	UTSW	2	70258030	missense	probably benign	0.01
R5103:Myo3b	UTSW	2	70096403	missense	probably benign	0.08
R5109:Myo3b	UTSW	2	70095293	missense	possibly damaging	0.66
R5304:Myo3b	UTSW	2	70426888	missense	probably damaging	0.97
R5396:Myo3b	UTSW	2	70126985	missense	probably damaging	0.99
R5400:Myo3b	UTSW	2	70105380	missense	probably damaging	1.00
R5468:Myo3b	UTSW	2	70234441	missense	probably benign	0.00
R5620:Myo3b	UTSW	2	70238910	missense	probably benign	0.04
R5729:Myo3b	UTSW	2	70105739	missense	probably damaging	1.00
R5943:Myo3b	UTSW	2	70286941	missense	probably benign	0.03
R5971:Myo3b	UTSW	2	70238899	missense	possibly damaging	0.95
R6091:Myo3b	UTSW	2	70238769	missense	probably benign	0.00
R6138:Myo3b	UTSW	2	70238899	missense	possibly damaging	0.95
R6164:Myo3b	UTSW	2	70245410	critical splice donor site	probably null
R6177:Myo3b	UTSW	2	70313363	missense	probably benign	0.00
R6421:Myo3b	UTSW	2	70313356	missense	probably benign	0.02
R6478:Myo3b	UTSW	2	70348960	missense	probably benign
R6606:Myo3b	UTSW	2	70232485	missense	possibly damaging	0.94
R6752:Myo3b	UTSW	2	70289512	missense	probably damaging	1.00
R6982:Myo3b	UTSW	2	70426065	missense	probably benign	0.02
R6997:Myo3b	UTSW	2	70126985	missense	probably damaging	0.99
R7032:Myo3b	UTSW	2	70095264	missense	probably damaging	0.98
R7038:Myo3b	UTSW	2	70095208	missense	probably benign	0.00
R7062:Myo3b	UTSW	2	70217157	missense	probably benign	0.00
R7537:Myo3b	UTSW	2	70217169	missense	probably benign	0.01
R7861:Myo3b	UTSW	2	70108688	missense	probably damaging	1.00
R7955:Myo3b	UTSW	2	70095279	missense	probably benign	0.37
R7977:Myo3b	UTSW	2	70330933	missense	probably benign
R7978:Myo3b	UTSW	2	70253114	missense	probably damaging	1.00
R7987:Myo3b	UTSW	2	70330933	missense	probably benign
R8803:Myo3b	UTSW	2	70252994	missense	probably benign
R8843:Myo3b	UTSW	2	70257981	missense	probably damaging	1.00
R8896:Myo3b	UTSW	2	70238816	missense	probably damaging	1.00
R8904:Myo3b	UTSW	2	70426908	missense	probably benign	0.07
R8909:Myo3b	UTSW	2	70253096	missense	probably damaging	1.00
R9031:Myo3b	UTSW	2	70251750	missense	probably damaging	0.99
R9052:Myo3b	UTSW	2	70232403	missense	probably benign	0.00
R9251:Myo3b	UTSW	2	70258081	nonsense	probably null
R9268:Myo3b	UTSW	2	70426961	makesense	probably null
R9334:Myo3b	UTSW	2	70217016	missense	probably damaging	1.00
R9377:Myo3b	UTSW	2	70238898	missense	possibly damaging	0.78
R9457:Myo3b	UTSW	2	70095209	missense	probably benign	0.01
R9520:Myo3b	UTSW	2	70232409	missense	possibly damaging	0.67
R9593:Myo3b	UTSW	2	70245304	missense	probably benign	0.43
R9671:Myo3b	UTSW	2	70256564	missense	probably damaging	1.00
R9790:Myo3b	UTSW	2	70349943	missense	probably benign	0.35
R9791:Myo3b	UTSW	2	70349943	missense	probably benign	0.35
U15987:Myo3b	UTSW	2	70238899	missense	possibly damaging	0.95
X0025:Myo3b	UTSW	2	70232403	missense	probably benign	0.00
X0065:Myo3b	UTSW	2	70257969	missense	probably damaging	1.00
Z1177:Myo3b	UTSW	2	70096361	missense	probably damaging	1.00
Z1177:Myo3b	UTSW	2	70258027	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGCAATGCTTCCCCTTCAG -3'
(R):5'- GTCTCATCATTTGCACCAGGG -3'

Sequencing Primer
(F):5'- GGTTTTCCTCAAATATTACCATGTCG -3'
(R):5'- TCTTTGAGATCAGAGACCACAG -3'

Posted On

2016-11-08